Publications by authors named "J L A van Vugt"

Digital therapeutics (DTx) are an emerging medical therapy comprising evidence-based interventions that are regulatory approved for patient use, or are under development, for a variety of medical conditions, including hypertension, cancer, substance use disorders and mental disorders. DTx have significant potential to reduce the overall burden on healthcare systems and offer potential economic benefits. There is currently no specific legal regulation on DTx in the EU.

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Sex is an important covariate in all genetic and epigenetic research due to its role in the incidence, progression and outcome of many phenotypic characteristics and human diseases. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a sex bias towards higher incidence in males. Here, we report for the first time a blood-based epigenome-wide association study meta-analysis in 9274 individuals after stringent quality control (5529 males and 3975 females).

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Introduction: Body composition evaluation can be used to assess patients' nutritional status to predict clinical outcomes. To facilitate reliable and time-efficient body composition measurements eligible for clinical practice, fully automated computed tomography segmentation methods were developed. The aim of this study was to evaluate automated segmentation by Data Analysis Facilitation Suite in an independent dataset.

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Article Synopsis
  • Repeat expansions in the C9orf72 gene are a leading genetic cause of ALS and frontotemporal dementia, but understanding how this mutation causes neuron death is still unclear, complicating the search for effective therapies.
  • Researchers analyzed data from over 41,000 ALS and healthy samples to identify potential treatments, discovering that acamprosate, a drug used for other conditions, might be repurposed for C9orf72-related diseases.
  • Their findings demonstrated that acamprosate has neuroprotective properties in cell models and works similarly well as the current treatment, riluzole, showing the potential of using genomic data to find new drug applications.
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GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset disorders. Through a combination of DNA-methylation profiling and tandem repeat genotyping, we identified 24 methylated TREs and investigated their effects on human traits using phenome-wide association studies in 168,641 individuals from the UK Biobank, identifying 156 significant TRE-trait associations involving 17 different TREs. Of these, a GCC expansion in the promoter of AFF3 was associated with a 2.

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